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Results: 1-23 |
Results: 23
MOLECULAR-GENETICS OF HUMAN LEFT-RIGHT AXIS MALFORMATIONS
Authors: GEBBIA M BASSI MT FERRERO GB KOSAKI K CASEY B
Citation: M. Gebbia et al., MOLECULAR-GENETICS OF HUMAN LEFT-RIGHT AXIS MALFORMATIONS, Modern pathology, 11(1), 1998, pp. 2-2
X-LINKED SITUS ABNORMALITIES RESULT FROM MUTATIONS IN ZIC3
Authors: GEBBIA M FERRERO GB PILIA G BASSI MT AYLSWORTH AS PENMANSPLITT M BIRD LM BAMFORTH JS BURN J SCHLESSINGER D NELSON DL CASEY B
Citation: M. Gebbia et al., X-LINKED SITUS ABNORMALITIES RESULT FROM MUTATIONS IN ZIC3, Nature genetics, 17(3), 1997, pp. 305-308
CLINICAL AND MOLECULAR-GENETICS OF HUMAN LEFT-RIGHT AXIS DISORDERS
Authors: GEBBIA M BASSI MT FERRERO GB KOSAKI K CASEY B
Citation: M. Gebbia et al., CLINICAL AND MOLECULAR-GENETICS OF HUMAN LEFT-RIGHT AXIS DISORDERS, Molecular biology of the cell, 8, 1997, pp. 41-41
MULTIGENIC MUTATIONS ASSOCIATED WITH COMPLEX HEART MALFORMATIONS AND RELATED SITUS ABNORMALITIES
Authors: GEBBIA M BASSI MT FERRERO GB KOSAKI K CASEY B
Citation: M. Gebbia et al., MULTIGENIC MUTATIONS ASSOCIATED WITH COMPLEX HEART MALFORMATIONS AND RELATED SITUS ABNORMALITIES, The American journal of pathology, 151(5), 1997, pp. 8-8
NODAL, LEFTY, AND HNF-3-BETA NUCLEOTIDE CHANGES ASSOCIATED WITH COMPLEX HEART-DEFECTS AND OTHER FEATURES OF LEFT-RIGHT AXIS MALFORMATIONS
Authors: BASSI MT KOSAKI K BELMONT J CASEY B
Citation: Mt. Bassi et al., NODAL, LEFTY, AND HNF-3-BETA NUCLEOTIDE CHANGES ASSOCIATED WITH COMPLEX HEART-DEFECTS AND OTHER FEATURES OF LEFT-RIGHT AXIS MALFORMATIONS, American journal of human genetics, 61(4), 1997, pp. 8-8
CLONING OF THE MURINE HOMOLOG OF THE OCULAR ALBINISM TYPE-1 (OA1) GENE - SEQUENCE, GENOMIC STRUCTURE, AND EXPRESSION ANALYSIS IN PIGMENT-CELLS
Authors: BASSI MT INCERTI B EASTY DJ SVIDERSKAYA EV BALLABIO A
Citation: Mt. Bassi et al., CLONING OF THE MURINE HOMOLOG OF THE OCULAR ALBINISM TYPE-1 (OA1) GENE - SEQUENCE, GENOMIC STRUCTURE, AND EXPRESSION ANALYSIS IN PIGMENT-CELLS, PCR methods and applications, 6(9), 1996, pp. 880-885
A NEW REGION OF CONSERVATION IS DEFINED BETWEEN HUMAN AND MOUSE X-CHROMOSOMES
Authors: DINULOS MB BASSI MT RUGARLI EI CHAPMAN V BALLABIO A DISTECHE CM
Citation: Mb. Dinulos et al., A NEW REGION OF CONSERVATION IS DEFINED BETWEEN HUMAN AND MOUSE X-CHROMOSOMES, Genomics, 35(1), 1996, pp. 244-247
CLONING OF THE GENE FOR OCULAR ALBINISM TYPE-1 FROM THE DISTAL SHORT ARM OF THE X-CHROMOSOME
Authors: BASSI MT SCHIAFFINO MV RENIERI A DENIGRIS F GALLI L BRUTTINI M GEBBIA M BERGEN AAB LEWIS RA BALLABIO A
Citation: Mt. Bassi et al., CLONING OF THE GENE FOR OCULAR ALBINISM TYPE-1 FROM THE DISTAL SHORT ARM OF THE X-CHROMOSOME, Nature genetics, 10(1), 1995, pp. 13-19
CLONING OF A HUMAN HOMOLOG OF THE XENOPUS-LAEVIS APX GENE FROM THE OCULAR ALBINISM TYPE-1 CRITICAL REGION
Authors: SCHIAFFINO MV BASSI MT RUGARLI EI RENIERI A GALLI L BALLABIO A
Citation: Mv. Schiaffino et al., CLONING OF A HUMAN HOMOLOG OF THE XENOPUS-LAEVIS APX GENE FROM THE OCULAR ALBINISM TYPE-1 CRITICAL REGION, Human molecular genetics, 4(3), 1995, pp. 373-382
ANALYSIS OF THE OA1 GENE REVEALS MUTATIONS IN ONLY 1 3 OF PATIENTS WITH X-LINKED OCULAR ALBINISM/
Authors: SCHIAFFINO MV BASSI MT GALLI L RENIERI A BRUTTINI M DENIGRIS F BERGEN AAB CHARLES SJ YATES JRW MEINDL A LEWIS RA KING RA BALLABIO A
Citation: Mv. Schiaffino et al., ANALYSIS OF THE OA1 GENE REVEALS MUTATIONS IN ONLY 1 3 OF PATIENTS WITH X-LINKED OCULAR ALBINISM/, Human molecular genetics, 4(12), 1995, pp. 2319-2325
GENOMIC STRUCTURE AND MUTATION ANALYSIS OF THE OCULAR ALBINISM TYPE-1(OA1) GENE
Authors: BASSI MT SCHIAFFINO MV RENIERI A DENIGRIS F GALLI L BRUTTINI M BERGEN AAB LEWIS RA YATES J MEITINGER T BALLABIO A
Citation: Mt. Bassi et al., GENOMIC STRUCTURE AND MUTATION ANALYSIS OF THE OCULAR ALBINISM TYPE-1(OA1) GENE, American journal of human genetics, 57(4), 1995, pp. 25-25
DELETION SPANNING THE 5' ENDS OF BOTH THE COL4A5 AND COL4A6 GENES IN A PATIENT WITH ALPORTS-SYNDROME AND LEIOMYOMATOSIS
Authors: RENIERI A BASSI MT GALLI L ZHOU J GIANI M DEMARCHI M BALLABIO A
Citation: A. Renieri et al., DELETION SPANNING THE 5' ENDS OF BOTH THE COL4A5 AND COL4A6 GENES IN A PATIENT WITH ALPORTS-SYNDROME AND LEIOMYOMATOSIS, Human mutation, 4(3), 1994, pp. 195-198
A YAC-BASED BINNING STRATEGY FACILITATING THE RAPID ASSEMBLY OF COSMID CONTIGS - 1.6-MB OF OVERLAPPING COSMIDS IN XP22
Authors: WAPENAAR MC SCHIAFFINO MV BASSI MT SCHAEFER L CHINAULT AC ZOGHBI HY BALLABIO A
Citation: Mc. Wapenaar et al., A YAC-BASED BINNING STRATEGY FACILITATING THE RAPID ASSEMBLY OF COSMID CONTIGS - 1.6-MB OF OVERLAPPING COSMIDS IN XP22, Human molecular genetics, 3(7), 1994, pp. 1155-1161
A GENE FROM THE XP22.3 REGION SHARES HOMOLOGY WITH VOLTAGE-GATED CHLORIDE CHANNELS
Authors: VANSLEGTENHORST MA BASSI MT BORSANI G WAPENAAR MC FERRERO GB DECONCILIIS L RUGARLI EI GRILLO A FRANCO B ZOGHBI HY BALLABIO A
Citation: Ma. Vanslegtenhorst et al., A GENE FROM THE XP22.3 REGION SHARES HOMOLOGY WITH VOLTAGE-GATED CHLORIDE CHANNELS, Human molecular genetics, 3(4), 1994, pp. 547-552
A SUBMICROSCOPIC DELETION IN A PATIENT WITH ISOLATED X-LINKED OCULAR ALBINISM (OA1)
Authors: BASSI MT BERGEN AAB WAPENAAR MC SCHIAFFINO MV VANSCHOONEVELD M YATES JRW CHARLES SJ MEITINGER T BALLABIO A
Citation: Mt. Bassi et al., A SUBMICROSCOPIC DELETION IN A PATIENT WITH ISOLATED X-LINKED OCULAR ALBINISM (OA1), Human molecular genetics, 3(4), 1994, pp. 647-648
CHARACTERIZATION AND CLONING OF THE CRITICAL REGION FOR THE MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME (MLS)
Authors: SCHAEFER L WAPENAAR MC BASSI MT FERRERO GB GRILLO A ROTH RJ BALLABIO A ZOGHBI HY
Citation: L. Schaefer et al., CHARACTERIZATION AND CLONING OF THE CRITICAL REGION FOR THE MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME (MLS), Journal of cellular biochemistry, 1994, pp. 208-208
AN EFFICIENT YAC-BASED BINNING STRATEGY FOR THE CONSTRUCTION OF MB-SCALE COSMID CONTIGS - 1.6-MB OF OVERLAPPING COSMIDS SPANNING THE OA1 AND MLS GENES IN XP22
Authors: WAPENAAR MC SCHIAFFINO MV BASSI MT SCHAEFER L CHINAULT AC ZOGHBI HY BALLABIO A
Citation: Mc. Wapenaar et al., AN EFFICIENT YAC-BASED BINNING STRATEGY FOR THE CONSTRUCTION OF MB-SCALE COSMID CONTIGS - 1.6-MB OF OVERLAPPING COSMIDS SPANNING THE OA1 AND MLS GENES IN XP22, Cytogenetics and cell genetics, 67(4), 1994, pp. 330-330
A HIGH-RESOLUTION DELETION MAP OF HUMAN CHROMOSOME-XP22
Authors: SCHAEFER L FERRERO GB GRILLO A BASSI MT ROTH EJ WAPENAAR MC VANOMMEN GJB MOHANDAS TK ROCCHI M ZOGHBI HY BALLABIO A
Citation: L. Schaefer et al., A HIGH-RESOLUTION DELETION MAP OF HUMAN CHROMOSOME-XP22, Nature genetics, 4(3), 1993, pp. 272-279
THE GENES FOR X-LINKED OCULAR ALBINISM (OA1) AND MICROPHTHALMIA WITH LINEAR SKIN DEFECTS (MLS) - CLONING AND CHARACTERIZATION OF THE CRITICAL REGIONS
Authors: WAPENAAR MC BASSI MT SCHAEFER L GRILLO A FERRERO GB CHINAULT AC BALLABIO A ZOGHBI HY
Citation: Mc. Wapenaar et al., THE GENES FOR X-LINKED OCULAR ALBINISM (OA1) AND MICROPHTHALMIA WITH LINEAR SKIN DEFECTS (MLS) - CLONING AND CHARACTERIZATION OF THE CRITICAL REGIONS, Human molecular genetics, 2(7), 1993, pp. 947-952
A HIGH-RESOLUTION 30-MB DELETION MAP OF THE DISTAL SHORT ARM OF THE HUMAN X-CHROMOSOME
Authors: BALLABIO A SCHAEFER L FERRERO GB GRILLO A BASSI MT ROTH EJ WAPENAAR MC VANOMMEN GJB MOHANDAS TK ROCCHI M NELSON D ZOGHBI HY
Citation: A. Ballabio et al., A HIGH-RESOLUTION 30-MB DELETION MAP OF THE DISTAL SHORT ARM OF THE HUMAN X-CHROMOSOME, Cytogenetics and cell genetics, 64(3-4), 1993, pp. 171-171
A HIGH-RESOLUTION 30-MEGABASE DELETION MAP OF THE DISTAL SHORT ARM OFTHE HUMAN X-CHROMOSOME
Authors: FERRERO GB SCHAEFER L GRILLO A BASSI MT ROTH EJ WAPENAAR MC VANOMMEN GJB MOHANDAS TK ROCCHI M CHINAULT AC NELSON D ZOGHBI HY BALLABIO A
Citation: Gb. Ferrero et al., A HIGH-RESOLUTION 30-MEGABASE DELETION MAP OF THE DISTAL SHORT ARM OFTHE HUMAN X-CHROMOSOME, American journal of human genetics, 53(3), 1993, pp. 59-59
THE GENES FOR MICROPHTHALMIA WITH LINEAR SKIN DEFECTS (MLS) AND X-LINKED OCULAR ALBINISM (OA1) - CLONING AND CHARACTERIZATION OF THE CRITICAL REGIONS
Authors: WAPENAAR MC BASSI MT SCHAEFER L GRILLO A FERRERO GB CHINAULT AC BALLABIO A ZOGHBI HY
Citation: Mc. Wapenaar et al., THE GENES FOR MICROPHTHALMIA WITH LINEAR SKIN DEFECTS (MLS) AND X-LINKED OCULAR ALBINISM (OA1) - CLONING AND CHARACTERIZATION OF THE CRITICAL REGIONS, American journal of human genetics, 53(3), 1993, pp. 60-60
IDENTIFICATION OF A HUMAN X-LINKED GENE ENCODING A PUTATIVE ION-CHANNEL PROTEIN
Authors: BASSI MT VANSLEGTENHORST M RUGARLI E FRANCO B BORSANI G DECONCILIIS L WAPENAAR M BALLABIO A
Citation: Mt. Bassi et al., IDENTIFICATION OF A HUMAN X-LINKED GENE ENCODING A PUTATIVE ION-CHANNEL PROTEIN, American journal of human genetics, 53(3), 1993, pp. 664-664
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